[Late infantile and juvenile form of GM2-gangliosidosis variant B1].

Abstract

INTRODUCTION Variant B1 is a rare form of GM2-gangliosidosis characterized by the presence of a mutation in the hexosaminidase A gene (HEXA) leading to a defect in the catalytic region of the alpha-subunit of beta-hexosaminidase A (alpha beta heterodymer). The mutated Hex A has almost normal activity against the natural synthetic substrates (4… (More)

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Cite this paper

@article{Eirs1999LateIA, title={[Late infantile and juvenile form of GM2-gangliosidosis variant B1].}, author={Jes{\'u}s Eir{\'i}s and Amparo Chab{\'a}s and Ma Jos{\'e} Coll and Manuel Castro-Gago}, journal={Revista de neurologia}, year={1999}, volume={29 5}, pages={435-8} }